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8710 SERPINB7

8710

SERPINB7

serpin family B member 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition serpin family B member 7

研究结论

Date Results Publications
2021-03-13 13:25:00 Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation. 31706940
2019-05-25 12:35:00 SERPINB7 may be a valuable candidate for further studies. In the present study, a method for identifying novel key pathogenic skinspecific molecules is presented, which may be used for investigating and treating psoriasis. 30592269
2019-05-04 12:06:00 mutant SERPINB7 mRNAs harboring r.796c>u were degraded by nonsense-mediated mRNA decay. Furthermore, the truncated SERPINB7 protein was degraded via a proteasome-mediated pathway 29106929
2018-08-25 11:14:00 SERPINB7 mutations are related strictly to the PPKN phenotype. Our study indicates that screening for SERPINB7 mutations is useful to distinguish PPKN from other PPK types and from non-PPK keratinizing diseases with palmoplantar skin lesions. 28211129
2017-04-15 10:22:00 Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). 27666198

名称对应

Type IDs
Synonymous MEGSIN, PPKN, TP55
Gene
UniProtKB-ID: SPB7_HUMAN, A8K3Q8_HUMAN
UniprotKB: O75635, A8K3Q8
UniParc: UPI0002065863, UPI0000135DAA, UPI00015DA6ED
EMBL: AK300828, AC072051, AF027866, BC069417, BC106744, BC106743, BC069547, AK290673, AC069356, D88575, BC069442
Ensembl: ENSG00000166396
KO: hsa:8710
Nucleutide sequences
EMBL-CDS: AAI06744.1, AAH69547.1, BAA31232.1, AAH69417.1, BAG62480.1, AAH69442.1, AAC64506.1, AAI06745.1, BAF83362.1
Ensembl_TRS: ENST00000336429, ENST00000540675, ENST00000546027, ENST00000398019
Protein sequencees
Ensembl_PRO: ENSP00000444861, ENSP00000444572, ENSP00000337212, ENSP00000381101
RefSeq: NP_003775.1, NP_001248760.1, XP_024307046.1, NP_001248759.1, NP_001035237.1
Others
UniRef100: UniRef100_A8K3Q8, UniRef100_O75635
UniRef90: UniRef90_O75635
UniRef50: UniRef50_O75635
UniGene: Hs.138202, Hs.742388
CCDS: CCDS11988.1, CCDS58633.1

全选

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